ターゲット情報

Transcriptional activator. Binds to the interferon-stimulated response element (ISRE) of the MHC class I promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in ISRE-targeted signal transduction mechanisms specific to lymphoid cells.

組織特異性

Lymphoid cells.

関連疾患

Defects in IRF4 are a cause of multiple myeloma (MM) [MIM:254500]. MM is a malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. Note=A chromosomal aberration involving IRF4 is found in multiple myeloma. Translocation t(6;14)(p25;q32) with the IgH locus.

Tissue was fixed with formaldehyde and blocked with 2.5% serum for 30 minutes at 25°C; antigen retrieval was by heat mediation in a TRIS-EDTA buffer (pH 9). Samples were incubated with primary antibody (1/50 in PBS plus 1X casein) for 1 hour 30 minutes at 37°C. An undiluted HRP-conjugated horse anti-rabbit polyclonal IgG was used as the secondary antibody.